Sideroblastic Anemia
Sideroblastic anemia (SA) is a heterogeneous group of rare hematologic disorders characterized by defective heme synthesis in erythroblasts, leading t...
#genetic disorder
4 articles
Congenital Nephrotic Syndrome
Congenital Nephrotic Syndrome (CNS) is a rare, genetically driven kidney disorder presenting within the first three months of life—typically before bi...
Autosomal Dominant Polycystic Kidney Disease
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited kidney disorder, characterized by progressive development of bilater...
Neurofibromatosis
Neurofibromatosis (NF) is a group of inherited genetic disorders—primarily NF1 and NF2—that cause tumors to form on nerve tissue, often leading to dis...